Ciliopathies:cellularmechanism and translational application / 中国组织工程研究

ABSTRACT

BACKGROUND:Cilium is an antenna-like organele that plays a vital role in al organs generation and maintenance.Ciliopathiesrefer tomultisystem diseasescaused bydisordersofthecilia structure and function. OBJECTIVE:To introduce current understanding of the structure and function of the cilium,with afocus on the study progress ofciliopathies. METHODS:PubMed databasewas searched by computerusing the keywords of“primary cilium, motion cilium,ciliopathy”.Totally 371 relevantarticlespublished from 1959 to 2015 were retrieved. After excluding repetitive and irrelevant articles,we enrolled32 English literaturesregardingcilia structure, functionand ciliopathiesin accordance with the inclusion criteria. RESULTS AND CONCLUSION:Ciliopathiesalmostinvolve every system of the human body, such asthe brain, eyes, liver, kidney, bone and reproductive system.Most ciliopathies are related to human developmental or degenerative diseases, which characterized by wide-ranging clinical and genetic heterogeneity,such asprimary ciliary dyskinesia,ploycystic kidney disease, infertility, blindness and tumor. In view ofthemedical importanceof the cilium, scholars have devoted tostudyingthe underlying celular mechanisms.Thesein turnhave revealed thatciliopathiesare not only caused bydefectiveassemblyof the cilium,but also by impaired ciliarysignaling.